[HTML][HTML] Phospholamban R14del disease: The past, the present and the future

E Vafiadaki, PC Glijnis, PA Doevendans… - Frontiers in …, 2023 - frontiersin.org
Arrhythmogenic cardiomyopathy affects significant number of patients worldwide and is
characterized by life-threatening ventricular arrhythmias and sudden cardiac death …

[HTML][HTML] Reassessing the Mechanisms of PLN-R14del Cardiomyopathy: From Calcium Dysregulation to S/ER Malformation

NM Stege, RA de Boer, CA Makarewich… - JACC: Basic to …, 2024 - Elsevier
The phospholamban (PLN) pathogenic gene variant, p. Arg14del (PLN-R14del), can lead to
dilated and arrhythmogenic cardiomyopathy, resulting in heart failure. PLN-R14del …

[HTML][HTML] Evolving cardiovascular genetic counseling needs in the era of precision medicine

A Morales, J Goehringer, D Sanoudou - Frontiers in Cardiovascular …, 2023 - frontiersin.org
In the era of Precision Medicine the approach to disease diagnosis, treatment, and
prevention is being transformed across medical specialties, including Cardiology, and …

[HTML][HTML] A novel role for phospholamban in the thalamic reticular nucleus

B Klocke, A Britzolaki, J Saurine, H Ott, K Krone… - Scientific Reports, 2024 - nature.com
The thalamic reticular nucleus (TRN) is a brain region that influences vital neurobehavioral
processes, including executive functioning and the generation of sleep rhythms. TRN …

[HTML][HTML] Therapeutic Targets and Personalized Medicine in Cardiac Disease

E Vafiadaki, IC Turnbull, D Sanoudou - Journal of Personalized Medicine, 2023 - mdpi.com
4. Summary In summary, this Special Issue covers a breadth of precision medicine aspects,
including an array of new therapeutic targets and a variety of novel approaches aiming …

Signaling mechanisms in the regulation of cardiomyocyte cohesion in arrhythmogenic cardiomyopathy

M Shoykhet - 2023 - edoc.ub.uni-muenchen.de
The heart, being “the engine of life” provides the organism with blood and thereby with
oxygen. Therefore, it is of utmost importance that the human heart can beat correctly and at a …